inborn errors of amino-acids metabolism and other inherited mendeliandisorders are common in the middleeast. the number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques.  the aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (pku), tyrosinemia, and maple syrup...

Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13, respectively, in the parents. The experimental program PolyPhen, SIFT, and MT predicts former missense point mutation as "benign" that creates a potential...

Tyrosinemia type 1 (TT1) is an inherited metabolic disease that can be fatal when not detected early by newborn screening. In the past, children with TT1 had a poor prognosis due to organ failure and neurologic crisis during infancy. Recent improvements in newborn screening have changed the prognosis of affected children. Measurement of succinylacetone by tandem mass spectrometry provides early...